Incidental Mutation 'IGL02469:Akr7a5'
| ID |
294672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr7a5
|
| Ensembl Gene |
ENSMUSG00000028743 |
| Gene Name |
aldo-keto reductase family 7, member A5 |
| Synonyms |
Afar, 0610025K21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139038055-139045737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139041492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 134
(S134T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053862]
[ENSMUST00000073787]
[ENSMUST00000105801]
[ENSMUST00000139840]
[ENSMUST00000141007]
[ENSMUST00000172747]
|
| AlphaFold |
Q8CG76 |
| PDB Structure |
MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053862
|
| SMART Domains |
Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073787
AA Change: S134T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
AA Change: S134T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
48 |
356 |
4.4e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105801
|
| SMART Domains |
Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139840
|
| SMART Domains |
Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172747
|
| SMART Domains |
Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Aldh4a1 |
C |
T |
4: 139,375,472 (GRCm39) |
T527I |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Caml |
T |
C |
13: 55,776,390 (GRCm39) |
S210P |
probably damaging |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,435 (GRCm39) |
D380G |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
| Yipf3 |
T |
C |
17: 46,561,384 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Akr7a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02156:Akr7a5
|
APN |
4 |
139,041,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Akr7a5
|
APN |
4 |
139,041,837 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Akr7a5
|
UTSW |
4 |
139,045,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1403:Akr7a5
|
UTSW |
4 |
139,045,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4288:Akr7a5
|
UTSW |
4 |
139,041,415 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4585:Akr7a5
|
UTSW |
4 |
139,038,238 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5067:Akr7a5
|
UTSW |
4 |
139,038,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Akr7a5
|
UTSW |
4 |
139,041,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6296:Akr7a5
|
UTSW |
4 |
139,045,532 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9279:Akr7a5
|
UTSW |
4 |
139,044,079 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9413:Akr7a5
|
UTSW |
4 |
139,038,059 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation